DISEASES

Disease-gene associations mined from literature

Literature associating ACTR3 and autosomal recessive centronuclear myopathy

ACTR3 [ENSP00000263238]

Actin-related protein 3; ATP-binding component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF) . The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility . Seems to contact the pointed end of the daughter actin filament . In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA . The Arp2/3 complex promotes homologous recombination (HR) repair in response to DNA damage by promoting nuclear actin polymerization, leading to drive motility of double-strand breaks (DSBs) . Plays a role in ciliogenesis . ECO:0000269|PubMed:20393563, ECO:0000269|PubMed:29925947,; Belongs to the actin family. ARP3 subfamily.

Synonyms:  ACTR3,  ACTR3p,  hACTR3,  A0A024RAI1,  B4DXW1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM